A300G (p.Ala300Gly) variant of PAH (Phenylalanine-4-hydroxylase)
A300G (p.Ala300Gly) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A300G (p.Ala300Gly) variant details
- p.Ala300Gly
- rs199475609
- ClinGen CA386294199
- ClinVar RCV002971501
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.93
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)